Abstract
A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified: the Tank-binding kinase 1 (TBK1) gene. Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD. A point mutation analysis in a cohort of 69 Italian ALS patients was performed in order to analyze the frequency of TBK1 mutations and the correlation with clinical phenotypes. The analysis identified the novel variant p.Tyr424Asp in a patient with a rapid progression of the disease. Our data supports the implication of TBK1 in ALS pathogenesis in Italy.
Keywords:
Amyotrophic lateral sclerosis; Italy; genetics; missense mutation.
MeSH terms
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Aged
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Amyotrophic Lateral Sclerosis / complications
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Amyotrophic Lateral Sclerosis / diagnostic imaging
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Amyotrophic Lateral Sclerosis / genetics*
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Aspartic Acid / genetics
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C9orf72 Protein / genetics
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Cognitive Dysfunction / diagnostic imaging
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Cognitive Dysfunction / etiology
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Cognitive Dysfunction / genetics*
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DNA Mutational Analysis
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Female
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Fluorodeoxyglucose F18 / metabolism
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Genetic Association Studies
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Genetic Predisposition to Disease / genetics*
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Humans
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Italy
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Male
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Mental Status and Dementia Tests
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Middle Aged
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Mutation / genetics*
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Neuropsychological Tests
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Positron-Emission Tomography
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Protein Serine-Threonine Kinases / genetics*
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Tyrosine / genetics
Substances
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C9orf72 Protein
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C9orf72 protein, human
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Fluorodeoxyglucose F18
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Aspartic Acid
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Tyrosine
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Protein Serine-Threonine Kinases
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TBK1 protein, human